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What Is Trisomy 18 - The Province

What is Trisomy 18 and why are people asking about it? Pennsylvania Senator Rick Santorum is a GOP presidential candidate. His daughter Isabella suffers from the genetic disorder called Trisomy 18. Most people don't know what this disease is, but as I have previously written sometimes it takes a celebrity to bring such diseases into the limelight.

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Trisomy 18 is a genetic disorder caused by the presence of an extra 18th chromosome. Most babies born with the disease don't live past their first birthday, since it may cause kidney failures, eating and breathing difficulties, heart defeats and other abnormalities.  Santorum's daughter is an amazing exception — she has managed to reach the age of three.

Santorum has used Trisomy 18 to his advantage in the campaign. He has created a political ad that shows him with his daughter as he talks about her struggles and how much he loves her. Her name alone gives him a huge boost in the public's opinion of him since it casts him as a man committed to family.

It's also a time when the U.S. Is faced with a socialized health care system, known as Obamacare, which opponents argue will cause difficult decisions for the parents of children who face complicated and expensive-to-treat diseases. The Santorums had difficulty finding doctors who were experienced in treating Trisomy 18. This wide exposure for Trisomy 18 sheds new light on the struggle parents go through in dealing with such a tragedy and hopefully will instigate a change, lifting fundraising and research towards this disease.

You can support the Trisomy 18 Foundation below:

https://secure2.Convio.Net/tris/site/Donation2?Idb=2074500994&df_id=1852&1852.Donation=form1&JServSessionIdr004=pghgwkcup3.App214b

I  am a firefighter and cancer survivor circumnavigating the globe by bicycle to fund research for a cure breast, prostate, and lung cancer. The posted blogs are my personal opinion and thoughts. 

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DNA Test That Identifies Down Syndrome In Pregnancy Can Also Detect ...

A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities.

These are the results of an international, multicenter study published online February 2 in the journal Genetics in Medicine. The study, the largest and most comprehensive done to date, adds to the documented capability (study published in Genetics in Medicine in October 2011) of the tests by examining results in 62 pregnancies with trisomy 18 and 12 pregnancies with trisomy 13.Together with the Down syndrome pregnancies reported earlier, 286 trisomic pregnancies and 1,702 normal pregnancies are included in the report.

The research was led by Glenn Palomaki, PhD, and Jacob Canick, PhD, of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island and The Warren Alpert Medical School of Brown University, and included scientists at Sequenom Inc. And Sequenom Center for Molecular Medicine, San Diego, CA, and an independent academic laboratory at the University of California at Los Angeles.

The test identified 100% (59/59) of the trisomy 18 and 91.7% (11/12) of the trisomy 13 pregnancies.The associated false positive rates were 0.28 and 0.97%, respectively.Overall, testing failed to provide a clinical interpretation in 17 women (0.9%); three of these women had a trisomy 18 pregnancy.By slightly raising the definition of a positive test for chromosome 18 and 13, the detection rate remained constant, but the false positive rate could be as low as 0.1%.These findings, along with the detailed information learned from testing such a large number of samples, demonstrate that the new test will be highly effective when offered to women considering invasive testing.

"Our previous work demonstrated the ability to identify Down syndrome, the most common trisomy.These new data extend the finding to the next two most common trisomies and will allow for wider use of such testing with the ability to identify all three common trisomies," said Dr. Palomaki."The new DNA test can now also be offered to women identified as being as high risk for trisomy 18 or trisomy 13, as well those at high risk for Down syndrome."

"This highly sensitive and specific DNA test has the potential to impact on couples' decision-making," says Dr. Canick."A woman whose pregnancy was identified as high risk who earlier would have chosen not to have invasive diagnostic testing, might now consider the DNA test as a safe way to obtain further information, before making a final decision."The US Centers for Disease Control and Prevention estimated in 1995 that about one in every 200 invasive diagnostic procedures will cause a pregnancy miscarriage.

Trisomy 18, also called Edwards syndrome, is a serious disorder with up to 70% of first trimester affected fetuses being spontaneously lost during pregnancies.Among those born alive, half die within a week with only 5% surviving the first year.All have serious medical and developmental problems.About 1,330 infants with trisomy 18 would be born in the US each year in the absence of prenatal diagnosis.Trisomy 13, also called Patau syndrome, is less common but equally serious.About 600 infants with trisomy 13 would be born in the US each year in the absence of prenatal diagnosis.Like Down syndrome, trisomy 18 and trisomy 13 are more common as maternal age increases.For comparison, about 7,730 Down syndrome cases would be born each year in the absence of prenatal diagnosis.Current prenatal screening tests for trisomy 18 and trisomy 13 rely on both biochemical and ultrasound markers.

This industry-sponsored project, awarded to Drs. Palomaki and Canick and Women & Infants Hospital in 2008, enrolled 4,500 women at 27 prenatal diagnostic centers throughout the world.Women & Infants also served as one of the enrollment centers under the direction of maternal-fetal medicine specialist and director of Perinatal Genetics, Barbara O'Brien, MD.

"It is clinically more relevant that all three trisomies can be detected by this test," said Dr. O'Brien."Having access to such a comprehensive, DNA-based test that can be done early in pregnancy will give us more information so that we can better guide which patients should consider diagnostic testing."

Newborns With Trisomy 13 Or 18 Benefit From Heart ... - ScienceDaily

Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford University School of Medicine and his colleagues at the University of Arkansas for Medical Sciences.

Trisomy 13 and 18, which result from having extra chromosomes, often cause heart defects. Infants with the conditions generally die within their first year. Many die within weeks, if not days, of being born.

Due to these infants' short life expectancy, their heart conditions are often treated with standard medical care -- blood pressure medication, ventilators and intravenous fluids -- but not surgery. Many hospitals rarely give parents the option of surgery for their child. "The thought has been it doesn't make sense to undertake a major heart surgery if the patient's death within a few months is a near certainty," said Thomas Collins, MD, clinical associate professor of pediatric cardiology at the Stanford University School of Medicine.

But Collins and his co-authors at the University of Arkansas for Medical Sciences analyzed the outcomes of the 100 babies with trisomy 13 or 18 in the study who had received heart surgery, and recorded the health impacts. What they found was that patients who underwent heart surgery had a significant decrease in mortality, and that the impact lasted for the next two years. "We thought we'd show no difference in survival, but it turns out there's a marked one," Collins said.

A study describing the team's findings will be published online Oct. 17 in Pediatrics. Collins, the senior author, was on the faculty of the University of Arkansas for Medical Sciences when much of the work was done. The lead author is Katherine Kosiv, MD, a cardiology fellow at the university.

Largest study of its kind

Using data gathered from 44 children's hospitals across the United States between 2004 and 2015, the researchers reported outcomes for nearly 1,600 patients, the largest study ever of infants with trisomy 13, also known as Patau syndrome, or trisomy 18, also known as Edwards syndrome, Collins said.

The researchers found that heart surgery increased survival and hospital discharge on average from 33 percent to approximately 67 percent for these patients, and that this benefit lasted through two years of follow-up. "When we analyzed the survival curves, the data spoke for themselves," Collins said. "Especially for trisomy 18, the number of babies that survive more than doubles after surgery."

Most infants in the study were admitted at less than a day old, and 51 percent of infants in the study who had congenital heart defects died in the hospital or were discharged to hospice. The researchers also found that in-hospital mortality decreased in infants who were older at their admission date, heavier and female, corroborating previous findings.

Challenging the narrative

Collins said his goal is to challenge the narrative surrounding these two conditions, much like how the story of trisomy 21, or Down syndrome, has changed in the last 40 years.

"Back in 1975, folks would've said there's nothing we can do to help those babies," he said. "But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community. The difference it makes for them is tremendous." Forty percent of people with Down syndrome have congenital heart disease, Collins said. And unlike cases of trisomy 13 and 18, it is now standard-of-care to operate on children with Down syndrome.

Scientists aren't sure why trisomy 13 and 18 are associated with higher rates of congenital heart disease than trisomy 21, and why patient death rates are so much higher.

Collins is certain, however, that trisomy 13 and 18 patients have far more neurological and developmental issues than those with Down syndrome, and is unsurprised at hospitals' attitudes that surgery is considered a big risk to take with patients who have a low likelihood of survival anyway.

Still, he suspects that the results of this study might shift the paradigm of how babies with trisomy 13 and 18 are cared for. "Surgery gives parents the option to say, 'We're going to do everything we can for our baby,'" said Collins. "And, now we've shown that heart surgeries could allow parents to take their babies home from the hospital, and have them for two years or beyond, as opposed to two weeks."

Collins also said that taking care of the patients' heart problems early on could enable caregivers to then properly analyze other health issues and perform follow-up procedures, such as tracheotomies, to improve the infants' respiration. His next study, in fact, is looking at all the risk factors other than heart disease in more than 3,000 trisomy 13 and 18 patients and analyzing how their collective health problems fit together. Collins hopes eventually to create a guideline for pediatric caregivers to determine which problems to treat in which order.

His work teasing out the most effective treatments for these babies ties into Stanford Medicine's focus on precision health, the goal of which is to anticipate and prevent disease in the healthy and precisely diagnose and treat disease in the ill.

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